John Christodoulou

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, undefined MCRI Rare Diseases Flagship, Vihandha O Wickramasinghe, Susan M White, John Christodoulou

Journal article  |  2021  |  Hum Mol Genet

The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and..

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W ten Broeke, Nicole de Leeuw, Laura Roht, Sander Pajusalu, Reelika Part, Ionella Rebane, Katrin Ounap, Zornitza Stark, Edwin P Kirk, John A Lawson, Sebastian Lunke, John Christodoulou, Raymond J Louie, R Curtis Rogers, Jessica M Davis, A Micheil Innes, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of ..

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René G Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, et al.

Journal article  |  2021  |  Genet Med

Unfortunately the funding information was not given. Funding is as follows: This work was funded by the ERA PerMed project PerMiM ..

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis

Janet C Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite, John Christodoulou

Journal article  |  2021  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here w..

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

Nicole J Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljic, Luke E Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A Stroud, John Christodoulou

Journal article  |  2021  |  NEUROBIOLOGY OF DISEASE

CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase..

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hy Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, et al.

Journal article  |  2021  |  J Med Genet

PURPOSE: Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ ..

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

Saskia B Wortmann, Szymon Zietkiewicz, Sergio Guerrero-Castillo, Rene G Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mroz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stuelpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C Myers, Robert Lorsbach, Russell C Dale, Soren Gersting, et al.

Journal article  |  2021  |  GENETICS IN MEDICINE

PURPOSE: To investigate monoallelic CLPB variants. Pathogenic variants in many genes cause congenital neutropenia. While most pati..

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

You Wu, Shanti Balasubramaniam, Rocio Rius, David R Thorburn, John Christodoulou, Ilias Goranitis

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic condit..

Ethically utilising COVID-19 host-genomic data

Christopher Gyngell, John Christodoulou, Julian Savulescu

Journal article  |  2021  |  NPJ GENOMIC MEDICINE

A novel cause of DKC1 ‐related bone marrow failure: Partial deletion of the 3′ untranslated region

Jonathan W Arthur, Hilda A Pickett, Pasquale M Barbaro, Tatjana Kilo, Raja S Vasireddy, Traude H Beilharz, David R Powell, Emma L Hackett, Bruce Bennetts, Julie A Curtin, Kristi Jones, John Christodoulou, Roger R Reddel, Juliana Teo, Tracy M Bryan

Journal article  |  2021  |  eJHaem